| Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ... The American Journal of Human Genetics 93 (1), 6-18, 2013 | 228 | 2013 |
| Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion A Cortese, S Tozza, WY Yau, S Rossi, SJ Beecroft, Z Jaunmuktane, ... Brain 143 (2), 480-490, 2020 | 211 | 2020 |
| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 124 (11), 4693-4708, 2014 | 183 | 2014 |
| Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores N Sambuughin, KS Yau, M Olivé, RM Duff, M Bayarsaikhan, S Lu, ... The American Journal of Human Genetics 87 (6), 842-847, 2010 | 178 | 2010 |
| Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ... The American Journal of Human Genetics 93 (6), 1108-1117, 2013 | 177 | 2013 |
| SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy PB Agrawal, CR Pierson, M Joshi, X Liu, G Ravenscroft, ... The American Journal of Human Genetics 95 (2), 218-226, 2014 | 171 | 2014 |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 161 | 2023 |
| Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy RM Duff, V Tay, P Hackman, G Ravenscroft, C McLean, P Kennedy, ... The American Journal of Human Genetics 88 (6), 729-740, 2011 | 156 | 2011 |
| Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing I Stevanovski, SR Chintalaphani, H Gamaarachchi, JM Ferguson, ... Science advances 8 (9), eabm5386, 2022 | 140 | 2022 |
| KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy A Garg, J O’Rourke, C Long, J Doering, G Ravenscroft, ... The Journal of clinical investigation 124 (8), 3529-3539, 2014 | 132 | 2014 |
| Congenital titinopathy: comprehensive characterization and pathogenic insights EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ... Annals of neurology 83 (6), 1105-1124, 2018 | 131 | 2018 |
| Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms KJ Nowak, G Ravenscroft, NG Laing Acta neuropathologica 125, 19-32, 2013 | 120 | 2013 |
| Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth EJ Todd, KS Yau, R Ong, J Slee, G McGillivray, CP Barnett, G Haliloglu, ... Orphanet Journal of Rare Diseases 10, 1-14, 2015 | 118 | 2015 |
| Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy IT Zaharieva, MG Thor, EC Oates, C Van Karnebeek, G Hendson, E Blom, ... Brain 139 (3), 674-691, 2016 | 117 | 2016 |
| Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita G Ravenscroft, F Nolent, S Rajagopalan, AM Meireles, KJ Paavola, ... The American Journal of Human Genetics 96 (6), 955-961, 2015 | 117 | 2015 |
| Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin KJ Nowak, G Ravenscroft, C Jackaman, A Filipovska, SM Davies, EM Lim, ... Journal of Cell Biology 185 (5), 903-915, 2009 | 93 | 2009 |
| Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus G Ravenscroft, NG Laing, CG Bönnemann Brain 138 (2), 246-268, 2015 | 86 | 2015 |
| NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease PB Martin, Y Kigoshi-Tansho, RB Sher, G Ravenscroft, JE Stauffer, ... Nature communications 11 (1), 4625, 2020 | 85 | 2020 |
| Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2 P Lassuthova, AP Rebelo, G Ravenscroft, PJ Lamont, MR Davis, ... The American Journal of Human Genetics 102 (3), 505-514, 2018 | 85 | 2018 |
| A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, ... Brain 143 (10), 2904-2910, 2020 | 83 | 2020 |
